Biotinidase Deficiency
fluoThe NEONATAL BTD Screening Fluo is an enzymatic assay designed to quantitatively measure biotinidase (BTD) activity levels in newborns, using dried blood spots, for the detection of biotinidase deficiency. This assay is dedicated to professional use in diagnostic laboratories. The device is not for self-testing.
BTD is extracted from filter paper using a special buffer containing biotinyl-6-aminoquinoline (B-6-AQ). In the process, BTD converts B-6-AQ into biotin and 6-aminoquinoline (6-AQ). The 6-AQ naturally fluorescence is directly linked to the BTD activity in the sample.
Format: 288 – 576 determinations
Storage: At 2-8°C
Possible automation: yes
Turn around time: less than 5 hours
Test principle
Biotin (also known as vitamin H or B8) is an essential vitamin belonging to the vitamin B complex. Biotin functions as a coenzyme essential for the proper functioning of gluconeogenesis, fatty acid synthesis and catabolism of various branched chain amino acids.
Biotinidase deficiency is a congenital error in biotin recycling metabolism.
A deep biotinidase deficiency is defined as a residual activity < 10% of normal mean serum biotinidase activity, while a partial deficiency is defined as a residual activity between 10% and 30% of normal mean activity.
Young children with a profound biotinidase deficiency diagnosis usually develop symptoms of severe neurological abnormalities including convulsions, hypotonia, ataxia, psychomotor retardation, optic atrophy, sensorineural deafness and skin disorders. Later, weakness of the motor limbs and spastic paresis also develop.
Individuals with partial biotinidase deficiency may suffer from symptoms of hypotonia, skin rashes and hair loss, particularly during periods of stress such as a prolonged infection.
The treatment consists of daily vitamin supplements of biotin taken by mouth. This treatment is remarkably effective if started at a very early age.
Disease
Advantages






Linked products

You have a question regarding our products ? You want to know more about our method ?
Find out about our other expertises

